Variant report

Variant	rs17472904
Chromosome Location	chr1:166600786-166600787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166599816..166602307-chr1:166602461..166604942,2	K562	blood:
2	chr1:166598376..166600400-chr1:166600678..166602405,2	K562	blood:
3	chr1:166598318..166601316-chr1:166603442..166605798,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10047082	0.86[ASN][1000 genomes]
rs10494466	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10800253	0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10918536	0.90[AFR][1000 genomes]
rs10918549	0.92[CEU][hapmap];0.84[GIH][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs10918553	0.84[ASN][1000 genomes]
rs10918554	0.86[ASN][1000 genomes]
rs10918565	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11585016	0.86[ASN][1000 genomes]
rs12022833	0.84[ASN][1000 genomes]
rs12074945	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12082938	0.86[ASN][1000 genomes]
rs12406568	0.86[ASN][1000 genomes]
rs1631056	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2119900	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3125820	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs34311259	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3856217	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3904701	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4068473	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4090281	0.86[ASN][1000 genomes]
rs4393133	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4514220	0.85[CHB][hapmap]
rs4657570	0.88[CEU][hapmap];0.81[CHB][hapmap];0.81[GIH][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4657571	0.92[CEU][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4657581	0.92[CEU][hapmap];0.83[GIH][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs471764	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs472652	0.93[ASN][1000 genomes]
rs473746	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs475264	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs482782	0.91[ASN][1000 genomes]
rs482850	0.91[ASN][1000 genomes]
rs482905	0.85[CHB][hapmap]
rs483138	0.89[ASN][1000 genomes]
rs484070	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs496095	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs500437	0.87[ASN][1000 genomes]
rs500568	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs503960	0.89[ASN][1000 genomes]
rs505012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs505135	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs511809	0.89[ASN][1000 genomes]
rs514307	0.89[ASN][1000 genomes]
rs519135	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs524397	0.91[ASN][1000 genomes]
rs525948	0.93[ASN][1000 genomes]
rs527241	1.00[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs529740	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs530513	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs530690	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs532412	0.89[ASN][1000 genomes]
rs535889	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs536773	0.91[ASN][1000 genomes]
rs537720	0.95[ASN][1000 genomes]
rs537782	0.89[ASN][1000 genomes]
rs553928	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs556269	0.93[ASN][1000 genomes]
rs563206	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs566841	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs568776	0.89[ASN][1000 genomes]
rs568821	0.89[ASN][1000 genomes]
rs571669	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs579545	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs580432	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6427018	0.84[ASN][1000 genomes]
rs7531612	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7539202	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2757759	chr1:166491879-166650985	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758975	chr1:166491879-166650985	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2756869	chr1:166543542-166601778	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv872519	chr1:166545275-166616786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv872518	chr1:166545275-166623180	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv34401	chr1:166546342-166617601	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv548098	chr1:166595209-166623180	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166596000-166601600	Weak transcription	K562	blood

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